ESPE2023 Poster Category 2 Multisystem Endocrine Disorders (11 abstracts)
Hypoglycemia in a 9-month-old infant due to hyperinsulinism by ABCC8 variant
Consuelo Pino 1 , Hugo Pizarro 2 , Andy Contreras 2 , Cristina Mayol 3 , Hana Karime Rumie 3 , Patricia Lacourt 3 , Javiera Bassaure 3 , Angelica Garcia 3 , Javiera Postigo 1 & Mirta Jara 1
1Division of Paediatrics, School of Medicine, Pontifica Universidad Católica de Chile, Santiago, Chile. 2Division of Paediatrics, School of Medicine, Pontifica Universidad Católica de Chile, Santiago, Chile. 3Pediatric Endocrinology Unit, Hospital Dr. Sótero del Río, Santiago, Chile
Introduction: Hypoglycemia due to Congenital hyperinsulinism is a phenotypically heterogeneous disease. Depending on the cause it is most frequently seen in the neonatal period but it can present later in life, with risk of neurological complications in the event of late diagnoses.
Clinical Case: Patient with a normal perinatal history, born at 40 weeks, weight 3600 grams and 50.5 centimeters of length. Because café au lait spots neurofibromatosis was ruled out. At 7 months of age anticonvulsants were started for a convulsive syndrome. At 9 months of age she went to the emergency room with a new seizure episode. Blood studies showed glycemia 27mg/dl, insulinemia 3UI/ml, negative ketones, and thyroid, cortisol and growth hormones in normal range. Amonia and lactic acid were in normal levels. Abdominal ultrasound, echocardiography, electroencephalogram and cerebral computed tomography showed no pathological findings. Treatment with Diazoxide at 7.5 mg/kg/day was started, and progressively increased to achieve normoglycemia. Genetic study of parents and patient´s NGS for hyperinsulinism was heterozygous for a paternally inherited pathogenic ABCC8 frameshift variant, consistent with focal hyperinsulinism. PET-CT Galio68 DOTATATE study was requested. To date patient hasn´t repeat neither hypoglycemia nor convulsions under diaxozide treatment.
Conclusion: Hypoglycemia due to congenital hyperinsulinism usually has an early presentation. Our patient first manifestations were after 6 month of age. Despite having a later presentation, a high suspicion and sequential study guided us to the diagnostic etiology and personalized treatment.
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